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| Issue Date | Title | Author(s) |
| 2003 | 46, XX Gonadal dysgenesis, short stature and mental retardation in three sisters | Said, Edith; Cuschieri, Alfred |
| 2009 | Aetiology of mental retardation in Malta using clinical, cytogenetic, arrayCGH and molecular diagnostic techniques | Said, Edith; Cuschieri, Alfred; Suleiman, Sherif; Neri, Giovanni |
| 2006 | Aicardi-Goutières syndrome : a genetic syndrome mimicking congenital infection – a description of two new cases | Soler, Doriette; Said, Edith; Cuschieri, Alfred |
| 2018 | Array-CGH analysis in patients with developmental delay, intellectual disability and congenital malformations | Farrugia, Mario Frank; Said, Edith |
| 2018 | BBMRI.mt participates in collaborative BBMRI-LPC project on Mitochondrial Disorders | Vella, Joanna; Borg, Joseph J.; Soler, Doriette; Vella, Norbert R.; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex E. |
| 2015 | A case of true hermaphroditism presenting as a testicular tumour | Ceci, Michelle; Calleja, Edward; Said, Edith; Gatt, Noel |
| 2018 | Characteristics of sporadic Creutzfeldt-Jakob disease cases in Malta | Melillo, Tanya; Borg, K.; Said, Edith; Borg, M.L.; Gauci, Charmaine |
| 2009 | Clinical and genetic characteristics of Griscelli syndrome type 2 | Pace, David; Calvagna, Victor; Said, Edith; Parascandolo, R.; de Saint Basile, G. |
| 2015 | The clinical bank of BBMRI.mt | Vella, Joanna; Borg, Joseph J.; Grech, Laura; Galdies, Ruth; Scerri, Jeanesse; Cassar, Wilhelmina; Scerri, Christian A.; Camilleri, Alexander; Bezzina Wettinger, Stephanie; Farrugia, Rosienne; Camilleri, G.; Pace, Nikolai Paul; Zammit, E.; Said Conti, Valerie; Grech, Godfrey; Saliba, Christian; Soler, Doriette; Vella, Norbert R.; Borg, Isabella; Said, Edith; Camilleri-Podesta, Marie Therese; Ellul, Bridget; Felice, T.; Grima, David; Ebejer, Jean Paul; Felice, Alex E. |
| 2015 | The clinical bank of BBMRI.mt | Vella, Joanna; Grech, Laura; Scerri, Jeanesse; Scerri, Christian A.; Bezzina Wettinger, Stephanie; Camilleri, Graziella; Zammit, Esther; Grech, Godfrey; Soler, Doriette; Borg, Isabella; Camilleri-Podesta, Marie Therese; Abela, Mark; Ebejer, Jean Paul; Borg, Joseph N.; Galdies, Ruth; Cassar, Wilhelmina; Camilleri, Alexander; Farrugia, Rosienne; Pace, Nikolai Paul; Said Conti, Valerie; Vella, Norbert R.; Saliba, Christian; Said, Edith; Ellul, Bridget; Grima, David; Felice, Alex E. |
| 2018 | Coarctation of the aorta - an epidemiological review of the Maltese Islands | Said, Edith; Borg, L. W.; Vassallo, Lucienne |
| 2015 | Cytogenetics of chronic lymphocytic leukaemia in Malta | Ciantar, Rachelle; Muscat, Karen; Bugeja, Marisa; Baldacchino, Shawn; Said, Edith |
| 2003 | Defect in dorso-ventral patterning in a spontaneously aborted foetus | Cuschieri, Alfred; Calleja-Agius, Jean; Said, Edith |
| 2004 | Defect in dorso-ventral patterning, asplenia, and conotruncus in a spontaneously aborted fetus | Cuschieri, Alfred; Said, Edith; Calleja-Agius, Jean |
| 2017 | Diagnosis and management of Silver–Russell syndrome : first international consensus statement | Wakeling, Emma L.; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O’Connell, Susan M.; Salem, Jennifer; Bliek, Jet; Canton, Ana P.M.; Chrzanowska, Krystyna H.; Davies, Justin H.; Dias, Renuka P.; Dubern, Béatrice; Elbracht, Miriam; Giabicani, Eloise; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita C.S.; Jorge, Alexander A.; Kagami, Masayo; Linglart, Agnes; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E.; Murray, Philip G.; Ogata, Tsutomu; Petit, Isabelle Oliver; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D.; Karen Temple, I.; Mackay, Deborah J.G.; Netchine, Irène |
| 2015 | Diagnosis of aneupoloidy using quantitative real-time PCR | Mercieca, Ann Marie; Bugeja, Marisa; Zahra, Graziella; Farrugia, John-Mary; Said, Edith |
| 2018 | Diagnosis of mitochondrial disorders by whole exome sequencing | Vella, Joanna; Laurie, S.; Borg, Joseph J.; Soler, Doriette; Vella, Norbert R.; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex E. |
| 2017 | DiGeorge phenotype in the absence of 22q11 deletion : a case report | Taliana, Nikita; Said, Edith; Grech, Victor E. |
| 2020 | DPH1 syndrome : two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients | Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A.L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D.; Balcells, Susanna |
| 2006 | Eight previously unidentified mutations found in the OA1 ocular albinism gene | Mayeur, Hélène; Roche, Olivier; Vêtu, Christelle; Jaliffa, Carolina; Marchant, Dominique; Dollfus, Hélène; Bonneau, Dominique; Munier, Francis L.; Schorderet, Daniel F.; Levin, Alex V.; Héon, Elise; Sutherland, Joanne; Lacombe, Didier; Said, Edith; Mezer, Eedy; Kaplan, Josseline; Dufier, Jean-Louis; Marsac, Cécile; Menasche, Maurice; Abitbol, Marc |
